Case Report: A Novel COL1A1 Missense Mutation Associated With Dentineogenesis Imperfecta Type I

Background: Osteogenesis imperfecta (OI) is a clinical and genetic disorder that results in bone fragility, blue sclerae and dentineogenesis imperfecta (DGI), which is mainly caused by a mutation in the COL1A1 or COL1A2 genes, which encode type I procollagen. Case Report: A missense mutation (c.1463...

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Detalles Bibliográficos
Autores principales: Zeng, Yuting, Pan, Yuhua, Mo, Jiayao, Ling, Zhiting, Jiang, Lifang, Xiong, Fu, Yan, Wenjuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8260930/
https://www.ncbi.nlm.nih.gov/pubmed/34249109
http://dx.doi.org/10.3389/fgene.2021.699278

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8260930/
https://www.ncbi.nlm.nih.gov/pubmed/34249109
http://dx.doi.org/10.3389/fgene.2021.699278

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